Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		phenotype 0.100 None 0 0